ICHAD syndrome
MONDO:0979234Mondo
Findings
No curated finding names ICHAD syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
51 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormally low T cell receptor excision circle levelHPOHP:0031545
- 2 of 2 reported patients
- Absent nippleHPOHP:0002561
- 2 of 2 reported patients
- Absent speechHPOHP:0001344
- 1 of 1 reported patient
- AnkyloglossiaHPOHP:0010296
- 1 of 1 reported patient
- Anteverted naresHPOHP:0000463
- 1 of 1 reported patient
- AtelectasisHPOHP:0100750
- 1 of 1 reported patient
- Atopic dermatitisHPOHP:0001047
- 1 of 1 reported patient
- AutismHPOHP:0000717
- 1 of 1 reported patient
- Autoimmune hemolytic anemiaHPOHP:0001890
- 1 of 1 reported patient
- BlepharitisHPOHP:0000498
- 1 of 1 reported patient
- BlepharophimosisHPOHP:0000581
- 1 of 1 reported patient
- BrachycephalyHPOHP:0000248
- 1 of 1 reported patient
Show the remaining 39
- BronchiectasisHPOHP:0002110
- 1 of 1 reported patient
- Carious teethHPOHP:0000670
- 1 of 1 reported patient
- Choanal stenosisHPOHP:0000452
- 1 of 1 reported patient
- Cleft palateHPOHP:0000175
- 2 of 2 reported patients
- Decreased total T cell countHPOHP:0005403
- 2 of 2 reported patients
- Deeply set eyeHPOHP:0000490
- 1 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- IKZF2HGNC:13177
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of